What Is Hemophilia?

Hemophilia is an inherited bleeding disorder in which a person
lacks or has low levels of certain proteins called “clotting factors” and the
blood doesn’t clot properly as a result. This leads to excessive bleeding. There
are 13 types of clotting factors, and these work with platelets to help the
blood clot. Platelets are small blood cells that form in your bone marrow. According
to the World Federation of
Hemophilia (WFH), about one in 10,000 people are born with this disease.

People with hemophilia bleed easily, and the blood takes a longer
time to clot. People with hemophilia can experience spontaneous or internal
bleeding and often have painful, swollen joints due to bleeding into the
joints. This rare but serious condition can have life-threatening
complications.

Hemophilia B,
which is also called Christmas disease, is caused by a deficiency of factor IX.

Hemophilia C is
a mild form of the disease that’s caused by a deficiency of factor XI. People
with this rare type of hemophilia often don’t experience spontaneous bleeding.
Hemorrhaging typically occurs after trauma or surgery.

Hemophilia is an inherited genetic condition. This condition isn’t
curable, but it can be treated to minimize symptoms and prevent future health
complications.

In extremely rare cases, hemophilia can develop after birth. This
is called “acquired hemophilia.” This is the case in people whose immune system
forms antibodies that attack factors VIII or IX.

What Are the Symptoms of Hemophilia?

The extent of your symptoms depends on the severity of your
factor deficiency. People with a mild deficiency may bleed in the case of
trauma. People with a severe deficiency may bleed for no reason. This is called
“spontaneous bleeding.” In children with hemophilia, these symptoms may occur
around age 2.

Spontaneous bleeding can cause the following:

blood in the urine

blood in the stool

deep bruises

large, unexplained bruises

excessive bleeding

bleeding gums

frequent nosebleeds

pain in the joints

tight joints

irritability (in children)

When to See Your Doctor

The following symptoms constitute a medical emergency. You should
get treatment right away for any of these symptoms:

a severe headache

vomiting repeatedly

neck pain

blurred or doubled vision

extreme sleepiness

continuous bleeding from an injury

If you’re pregnant, it’s important that you see a doctor if you
experience any of the above symptoms.

What Causes Hemophilia?

A process in your body that’s known as “the coagulation cascade” normally
stops bleeding. Blood platelets coagulate, or gather together at the wound
site, to form a clot. Then the body’s clotting factors work together to create
a more permanent plug in the wound. A low level of these clotting factors or
the absence of them causes bleeding to continue.

Hemophilia and Genetics

Hemophilia is an inherited genetic condition, meaning it is passed
down through families. It’s caused by a defect in the gene that determines how
the body makes factors VIII, IX, or XI. These genes are located on the X chromosome,
making hemophilia an X-linked recessive disease.

Each person inherits two sex chromosomes from their parents.
Females have two X chromosomes. Males have one X and one Y chromosome.

Males inherit an X chromosome from their mother and a Y chromosome
from their father. Females receive an X chromosome from each parent. Because
the genetic defect that causes hemophilia is located on the X chromosome, fathers
can’t pass the disease to their sons. This also means that if a male gets the X
chromosome with the altered gene from his mother, he’ll have hemophilia. A female
with one X chromosome that has the altered gene has a 50 percent chance of
passing that gene to her children, male or female.

A female who has the altered gene on one of her X chromosomes is
typically called a
“carrier.” This means she may pass the disease to her children but she doesn’t
have the disease herself. This is because she has sufficient clotting factors
from her normal X chromosome to avoid serious bleeding issues. However, females
who are carriers often have an increased risk of bleeding.

Males with an X chromosome that has the altered gene may pass it
on to their daughters, making them carriers. A female must have this altered gene
on both of her X chromosomes to have hemophilia. However, this is very rare.

Risk Factors for Inheriting Hemophilia

Hemophilia A and B are more common in males than females because
of genetic transmission.

Hemophilia C is an autosomal inherited form of the disease,
meaning that it affects males and females equally. This is because the genetic
defect that causes this type of hemophilia isn’t related to sex chromosomes.
According to the Indiana
Hemophilia and Thrombosis Center, this form of the disease most commonly
affects people of Ashkenazi Jewish descent, but it may affect other ethnic
groups as well. In the United States, hemophilia C affects about 1
in 100,000 people.

How Is Hemophilia Diagnosed?

Hemophilia is diagnosed through a blood test. Your doctor will
remove a small sample of blood from your vein and measure the amount of
clotting factor present. The sample is then graded to determine the severity of
the factor deficiency:

Mild
hemophilia is indicated by a clotting factor in the plasma that’s between
5 and 40 percent.

Moderate
hemophilia is indicated by a clotting factor in the plasma that’s between
1 and 5 percent.

Severe
hemophilia is indicated by a clotting factor in the plasma of less
than 1 percent.

What Are the Complications Associated with
Hemophilia?

The complications of hemophilia include:

joint damage from repetitive bleeding

deep internal bleeding

neurological symptoms from bleeding within the
brain

You’re also at an increased risk of developing infections, such
as hepatitis, when you receive donor blood.

How Is Hemophilia Treated?

Your doctor can treat hemophilia A with a prescription hormone.
This hormone is called desmopressin, which they can give as an injection into
your vein. This medication works by stimulating the factors responsible for the
process of blood clotting.

Your doctor can treat hemophilia B by infusing your blood with
donor clotting factors. Sometimes, the factors may be given in the synthetic
form. These are called “recombinant clotting factors.”

Your doctor can treat hemophilia C using plasma infusion. The
infusion works to stop profuse bleeding. The deficient factor responsible for
hemophilia C is only available as a medication in Europe.

You can also go to physical therapy for rehabilitation if your
joints are damaged by hemophilia.

Preventing Hemophilia

Hemophilia is a condition that’s passed from a mother to her
child. When you’re pregnant, there’s no way of knowing whether your baby has
the condition. However, if your eggs are fertilized in a clinic using in vitro
fertilization, they can be tested for the condition. Then, only the eggs
without hemophilia can be implanted. Preconception and prenatal counseling can
also help you understand your risk of having a baby with hemophilia.